Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020, 164(1):92-99 | DOI: 10.5507/bp.2019.042

Congenital fetal heart defect - an agreement between fetal echocardiography and autopsy findings

Jan Pavliceka,b, Zdenek Tauberc, Eva Klaskovad, Katerina Cizkovac, Martin Prochazkae, Patricie Delongovaf, Beata Stefunkof, Iveta Szotkovskaf, Jana Dvorackovaf, Tomas Gruszka
a Department of Pediatrics and Prenatal Cardiology, University Hospital Ostrava, Ostrava, Czech Republic
b Biomedical Research Centre, University Hospital Hradec Kralove, Hradec Kralove, Czech Republic
c Department of Histology and Embryology, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic
d Department of Pediatrics, University Hospital Olomouc and Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic
e Department of Medical Genetics, University Hospital Olomouc and Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic
f Department of Pathology, University Hospital Ostrava, Ostrava, Czech Republic

Aims: To determine the frequency of pregnancy terminations due to prenatal congenital heart defect (CHD) and assess the agreement fetal echocardiography (FECHO) and autopsy findings.

Methods: The data were retrospectively assessed between 2008 and 2017 in a population of 116 698 live births. The correlations between the FECHO and autopsy findings were classified into five levels of agreement: complete, partial, altered diagnosis, disagreement, and unfeasible autopsy.

Results: Totally, 293 CHDs were identified and 49% of families (143/293) decided to terminate the pregnancy. In 1% (2/143) of cases, the autopsy could not be performed, for the other 99% (141/143), the pathologist confirmed the presence of CHDs. Complete agreement between FECHO and autopsy was achieved in 85% (122/143). In 10% (14/143) of cases, the pathologist found minor findings, which were not described in the FECHO. In 4% (5/143) of cases, the pathologist changed the main diagnosis.

Conclusion: Altogether, the results indicated that FECHO is a highly sensitive method for the prenatal detection of CHD but is incapable of detecting the complete spectrum of cardiac defects. Autopsies verified the diagnosis, confirmed the overall impairment in the fetus, and provided data for further counselling of the affected family.

Keywords: autopsy, fetal echocardiography, screening, termination of pregnancy, congenital heart defect, chromosomal aneuploidy

Received: March 16, 2019; Accepted: August 19, 2019; Prepublished online: September 23, 2019; Published: March 26, 2020  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Pavlicek, J., Tauber, Z., Klaskova, E., Cizkova, K., Prochazka, M., Delongova, P., ... Gruszka, T. (2020). Congenital fetal heart defect - an agreement between fetal echocardiography and autopsy findings. Biomedical papers, 164(1), 92-99. doi: 10.5507/bp.2019.042
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, Roos-Hesselink JW. Birth prevalence of congenital heart disease worldwide. J Am Coll Cardiol 2011;58:2241-2247. Go to original source... Go to PubMed...
    2. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890-900. Go to original source... Go to PubMed...
    3. Nayak K, Naveen Chandra GS, Shetty R, Narayan PK. Evaluation of fetal echocardiography as a routine antenatal screening tool for detection of congenital heart disease. Cardiovasc Diagn Ther 2016;6:44.
    4. Kaasen A, Tuveng J, Heiberg A, Scott H, Haugen G. Correlation between prenatal ultrasound and autopsy findings: a study of second trimester abortions. Ultrasound Obstet Gynecol 2006; 28: 925-33. Go to original source... Go to PubMed...
    5. Boyd PA, Tondi F, Hicks NR, Chamberlain PF. Autopsy after termination of pregnancy for fetal anomaly: retrospective cohort study. Brit Med J 2004;328:137. Go to original source... Go to PubMed...
    6. Laussel-Riera A, Devisme L, Manouvrier-Hanu S, Puech F, Robert Y, Gosselin B. Value of fetopathological examination in medical abortions: comparison of prenatal diagnosis and autopsy results of 300 fetuses. In Annales de pathologie. Ann Pathol 2000;20:549-57. Go to PubMed...
    7. Isaksen CV, Eik Nes SH, Blaas HG, Torp SH. Fetuses and infants with congenital urinary system anomalies: correlation between prenatal ultrasound and postmortem findings. Ultrasound Obstet Gynecol 2000;15:177-85. Go to original source... Go to PubMed...
    8. Marek J, Tomek V, Škovránek J, Povýšilová V, Šamánek M. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21- year experience. Heart 2011;97:124-30. Go to original source... Go to PubMed...
    9. Jicinska H, Vlasin P, Jicinsky M, Grochova I, Tomek V, Volaufova J, Skovranek J, Marek J. Does First-Trimester Screening Modify the Natural History of Congenital Heart Disease? Circulation 2017;135:1045-55. Go to original source... Go to PubMed...
    10. Bove KE. Autopsy Committee of the College of American Pathologists. Practice guidelines for autopsy pathology: the perinatal and pediatric autopsy. Arch Pathol Lab Med 1997;121:368.
    11. Donnelly WH, Hawkins H. Optimal examination of the normally formed perinatal heart. Hum Pathol 1987;18:55-60. Go to original source... Go to PubMed...
    12. Amini H, Antonsson P, Papadogiannakis N, Ericson K, Pilo Ch, Eriksson L, Westgren M, Axelsson O. Comparison of ultrasound and autopsy findings in pregnancies terminated due to fetal anomalies. Acta Obstet Gyn Scan 2006;85:1208-16. Go to original source... Go to PubMed...
    13. Cannie M, Votino C, Moerman PH, Vanheste R, Segers V, Van Berkel K, Hanssens M, Kang X, Cos T, Kir M, Balepa L, Divano L, Foulon W, De Mey J, Jani J. Acceptance, reliability and confidence of diagnosis of fetal and neonatal virtuopsy compared with conventional autopsy: a prospective study. Ultrasound Obstet Gynecol 2012;39:659-65. Go to original source...
    14. Chu C, Yan Y, Ren Y, Li X, Gui Y. Prenatal diagnosis of congenital heart diseases by fetal echocardiography in second trimester: a Chinese multicenter study. Acta Obstet Gyn Scan 2017;96:454-63. Go to original source... Go to PubMed...
    15. Tomek V, Gilík J, Jičínska H, Pavlíček J, Navrátil J, Čutka D, Vlašín P, Lacinová M, Marek J, Škovránek J. Prenatal detection of congenital heart defects and its consequences. Čes-slov Pediat 2018;73:284-90.
    16. Chenni N, Lacroze V, Pouet C, Fraisse A, Kreitmann B, Gamerre M, Boubli L, D'Ercole C. Fetal heart disease and interruption of pregnancy: factors influencing the parental decision-making process. Prenat diagn 2012;32:168-72. Go to original source... Go to PubMed...
    17. De Groote K, Vanhie E, Roets E, Ramaekers P, De Wilde H, Panzer J, Vandekerckhove K, Bove T, François K, Van Herck K, De Wolf D. Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies. Prenat diagn 2017;37:983-91. Go to original source... Go to PubMed...
    18. Garne E, Stoll C, Clementi M. Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries. Ultrasound Obstet Gynecol 2001;17:386-91. Go to original source... Go to PubMed...
    19. Persico N, Moratalla J, Lombardi CM, Zidere V, Allan L, Nicolaides KH. Fetal echocardiography at 11-13 weeks by transabdominal high-frequency ultrasound. Ultrasound Obstet Gynecol 2011;37:296-301. Go to original source... Go to PubMed...
    20. Campbell S, Allan L, Benacerraf B, Copel JA, Carvalho JS, Chaoui R. Isolated major congenital heart disease. Ultrasound Obstet Gynecol 2001;17:370-9. Go to original source... Go to PubMed...
    21. ACOG Committee on Practice Bulletins. AGOG practice bulletin No 58. Ultrasonography in pregnancy. Obstet Gynecol 2004;58:1449-58. Go to original source... Go to PubMed...
    22. Bellotti M, Fesslova V, De Gasperi C, Rognoni G, Bee V, Zucca I, Lombardi CM. Reliability of the first trimester cardiac scan by ultrasound trained obstetricians with high frequency transabdominal probes in foetuses with increased nuchal translucency. Ultrasound Obst Gyn 2010;36:272-8. Go to original source... Go to PubMed...
    23. Comas GC, Galindo A, Martinez JM, Carrera JM, Gutiérrez-Larraya F, de la Fuente P, Puerto B, Borrell A. Early prenatal diagnosis of major cardiac anomalies in a high risk population. Prenat diagn 2002;22:586-93. Go to original source... Go to PubMed...
    24. Brick DH, Allan LD. Outcome of prenatally diagnosed congenital heart disease: an update. Pediatr Cardiol. 2002;23:449-53. Go to original source... Go to PubMed...
    25. Allan LD, Sharland GK, Milburn A, Lockhart SM, Groves AMM, Anderson RH, Cook AC, Nuala LK. Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus. J Am Coll Cardiol 1994;23:1452-8. Go to original source... Go to PubMed...
    26. Blue GM, Kirk EP, Sholler GF, Harvey RP, Winlaw DS. Congenital heart disease: current knowledge about causes and inheritance. Med J Australia 2012;197:155-9. Go to original source... Go to PubMed...
    27. Calzolari E, Garani G, Cocchi G, Magnani C, Rivieri F, Neville A, Astolfi G, Baroncini A, Garavelli L, Gualandi F, Scorrano M, Bosi G. Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy). Eur J Epidemiol 2003;18:773-80. Go to original source... Go to PubMed...
    28. Bell R, Rankin J, Donaldson LJ. Down's syndrome: occurrence and outcome in the north of England, 1985-99. Paediatr Perinat Ep 2003;17:33-9. Go to original source... Go to PubMed...
    29. Tumanyan MR, Filaretova OV, Chechneva V, Gulasaryan RS, Butrim IV, Bockeria LA. Repair of complete atrioventricular septal defect in infants with Down syndrome: outcomes and long-term results. Pediatr cardiol 2015;36:71-5. Go to original source... Go to PubMed...
    30. Song MS, Hu A, Dyhamenahali U, Chitayat D, Winsor EJT, Ryan G, Smallhorn J, Barrett J, Yoo SJ, Hornberger LK. Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses. Ultrasound Obstet Gynecol 2009;33:552-9. Go to original source... Go to PubMed...
    31. Dadvand P, Rankin J, Shirley MD, Rushton S, Mulloli TP. Descriptive epidemiology of congenital heart disease in Northern England. Paediatr Perinat Ep 2009;23:58-65. Go to original source... Go to PubMed...
    32. Sankar VH, Phadke SR. Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings. J Perinatol 2006;26:224. Go to original source... Go to PubMed...
    33. Rossi AC, Prefumo F. Correlation between fetal autopsy and prenatal diagnosis by ultrasound: A systematic review. Eur J Obstet Gyn R B 2017;210:201-6. Go to original source... Go to PubMed...
    34. Isaksen CV, Eik-Nes SH, Blaas HG, Tegnander E, Torp SH. Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with congenital heart defects. Ultrasound Obstet Gynecol 1999;13:117-26. Go to original source... Go to PubMed...
    35. Akgun H, Basbug M, Ozgun MT, Canoz O, Tokat F, Murat N, Ozturk F. Correlation between prenatal ultrasound and fetal autopsy findings in fetal anomalies terminated in the second trimester. Prenat diagn 2007;27:457-62. Go to original source... Go to PubMed...
    36. Gómez O, Martinez JM, Olivella A, Bennasar M., Crispi F, Masoller N, Bartrons J, Puerto B, Gratacós E. Isolated ventricular septal defects in the era of advanced fetal echocardiography: risk of chromosomal anomalies and spontaneous closure rate from diagnosis to age of 1 year. Ultrasound Obstet Gynecol 2014;43:65-71. Go to original source... Go to PubMed...
    37. Durand I, Deverriere G, Thill C, Lety AS, Parrod C, David N, Barre E, Hazelzet T. Prenatal detection of coarctation of the aorta in a non-selected population: a prospective analysis of 10 years of experience. Pediatr cardiol 2015;36:1248-54. Go to original source... Go to PubMed...
    38. Gómez O, Soveral I, Bennasar M, Crispi F, Masoller N, Marimon E, Bartrons J, Gratacós E, Martinez JM. Accuracy of fetal echocardiography in the differential diagnosis between truncus arteriosus and pulmonary atresia with ventricular septal defect. Fetal Diagn Ther 2016;39:90-9. Go to original source... Go to PubMed...
    39. Hendler I, Blackwell SC, Bujold E, Treadwell MC, Wolfe HM, Sokol RJ, Sorokin Y. The impact of maternal obesity on midtrimester sonographic visualization of fetal cardiac and craniospinal structures. Int J Obesity 2004;28:1607. Go to original source... Go to PubMed...
    40. Burton JL, Underwood J. Clinical, educational, and epidemiological value of autopsy. The Lancet 2007;369:1471-80. Go to original source... Go to PubMed...
    41. Gordijn SJ, Erwich JJHM, Khong TY. Value of the perinatal autopsy: critique. Pediatr Devel Pathol 2002;5:480-8. Go to original source... Go to PubMed...
    42. Sebire NJ. Towards the minimally invasive autopsy? Ultrasound Obstet Gynecol 2006;28:865-7. Go to original source... Go to PubMed...
    43. Thayyil S, Chitty LS, Robertson NJ, Taylor AM, Sebire NJ. Minimally invasive fetal postmortem examination using magnetic resonance imaging and computerised tomography: current evidence and practical issues. Prenat diagn 2010;30:713-18. Go to original source... Go to PubMed...

    This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits use, distribution, and reproduction in any medium, provided the original publication is properly cited. No use, distribution or reproduction is permitted which does not comply with these terms.


    Return to the content